References
|
Altun M, Besche HC, Overkleeft HS, Piccirillo R, Edelmann MJ, Kessler BM, Goldberg AL, Ulfhake B (2010). Muscle wasting in aged, sarcopenic rats is associated with enhanced activity of the ubiquitin proteasome pathway. J Biol Chem, 285, 39597-39608. |
|
|
Ballinger CA, Connell P, Wu Y, Hu Z, Thompson LJ, Yin LY, Patterson C (1999). Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions. Mol Cell Biol, 19, 4535-4545. |
|
|
Bettencourt C, de Yebenes JG, Lopez-Sendon JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintans B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P (2015). Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. Cerebellum, 14, 378-381. |
|
|
Bird TD (2003). Hereditary Ataxia Overview. In GeneReviews(R). Eds R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, T. D. Bird, C. T. Fong, H. C. Mefford, R. J. H. Smith & K. Stephens. Bohm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Penisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J (2014). Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. J Med Genet, 51, 824-833. |
|
|
Bohm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantai D, Laforet P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J (2013). Constitutive activation of the calcium sensor STIM1 causes tubularaggregate myopathy. Am J Hum Genet, 92, 271-278. |
|
|
Boncompagni S, Protasi F, Franzini-Armstrong C (2012). Sequential stages in the agedependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement. Age (Dordr), 34, 27-41. |
|
|
Casarejos MJ, Perucho J, Lopez-Sendon JL, Garcia de Yebenes J, Bettencourt C, Gomez A, Ruiz C, Heutink P, Rizzu P, Mena MA (2014). Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia. PLoS One, 9, e106931. |
|
|
Chevessier F, Bauche-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantai D, Verdiere-Sahuque M (2005). The origin of tubular aggregates in human myopathies. J Pathol, 207, 313-323. |
|
|
Chevessier F, Marty I, Paturneau-Jouas M, Hantai D, Verdiere-Sahuque M (2004). Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging. Neuromuscul Disord, 14, 208-216. |
|
|
Connell P, Ballinger CA, Jiang J, Wu Y, Thompson LJ, Hohfeld J, Patterson C (2001). The co-chaperone CHIP regulates protein triage decisions mediated by heat-shock proteins. Nat Cell Biol, 3, 93-96. |
|
|
Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA (2014). Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations. Neurology, 83, 287-288. |
|
|
Dai Q, Zhang C, Wu Y, McDonough H, Whaley RA, Godfrey V, Li HH, Madamanchi N, Xu W, Neckers L, Cyr D, Patterson C (2003). CHIP activates HSF1 and confers protection against apoptosis and cellular stress. EMBO J, 22, 5446-5458. |
|
|
Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M (2014). Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology, 82, 1749-1750. |
|
|
Dickey CA, Yue M, Lin WL, Dickson DW, Dunmore JH, Lee WC, Zehr C, West G, Cao S, Clark AM, Caldwell GA, Caldwell KA, Eckman C, Patterson C, Hutton M, Petrucelli L (2006). Deletion of the ubiquitin ligase CHIP leads to the accumulation, but not the aggregation, of both endogenous phospho- and caspase-3-cleaved tau species. J Neurosci, 26, 6985-6996. |
|
|
Dogan T, Harms GS, Hekman M, Karreman C, Oberoi TK, Alnemri ES, Rapp UR, Rajalingam K (2008). X-linked and cellular IAPs modulate the stability of C-RAF kinase and cell motility. Nat Cell Biol, 10, 1447-1455. |
|
|
Engel WK, Bishop DW, Cunningham GG (1970). Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res, 31, 507-525. |
|
|
Hatakeyama S, Yada M, Matsumoto M, Ishida N, Nakayama KI (2001). U box proteins as a new family of ubiquitin-protein ligases. J Biol Chem, 276, 33111-33120. |
|
|
Heimdal K, Sanchez-Guixe M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjorkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis, 9, 146. |
|
|
Holmes G (1908). A form of familial degeneration of the cerebellum. Brain, 30, 466-489. |
|
|
Imai Y, Soda M, Hatakeyama S, Akagi T, Hashikawa T, Nakayama KI, Takahashi R (2002). CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity. Mol Cell, 10, 55-67. |
|
|
Jiang J, Ballinger CA, Wu Y, Dai Q, Cyr DM, Hohfeld J, Patterson C (2001). CHIP is a U-boxdependent E3 ubiquitin ligase: identification of Hsc70 as a target for ubiquitylation. J Biol Chem, 276, 42938-42944. |
|
|
Kharchenko AD, Burgasova VA, Ermolenko RI (1975). [Indicators of the activity of sympathetic-adrenal system at different stages of development of diabetes mellitus]. Pediatriia, 34-36. |
|
|
Kumar P, Ambasta RK, Veereshwarayya V, Rosen KM, Kosik KS, Band H, Mestril R, Patterson C, Querfurth HW (2007). CHIP and HSPs interact with beta-APP in a proteasomedependent manner and influence Abeta metabolism. Hum Mol Genet, 16, 848-864. |
|
|
Li X, Huang M, Zheng H, Wang Y, Ren F, Shang Y, Zhai Y, Irwin DM, Shi Y, Chen D, Chang Z (2008). CHIP promotes Runx2 degradation and negatively regulates osteoblast differentiation. J Cell Biol, 181, 959-972. |
|
|
Manta P, Terzis G, Papadimitriou C, Kontou C, Vassilopoulos D (2004). Emerin expression in tubular aggregates. Acta Neuropathol, 107, 546-552. |
|
|
Martin JE, Mather K, Swash M, Gray AB (1991). Expression of heat shock protein epitopes in tubular aggregates. Muscle Nerve, 14, 219-225. |
|
|
McLaughlin B, Buendia MA, Saborido TP, Palubinsky AM, Stankowski JN, Stanwood GD (2012). Haploinsufficiency of the E3 ubiquitin ligase C-terminus of heat shock cognate 70 interacting protein (CHIP) produces specific behavioral impairments. PLoS One, 7, e36340. |
|
|
Miller VM, Nelson RF, Gouvion CM, Williams A, Rodriguez-Lebron E, Harper SQ, Davidson BL, Rebagliati MR, Paulson HL (2005). CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo. J Neurosci, 25, 9152-9161. |
|
|
Min JN, Whaley RA, Sharpless NE, Lockyer P, Portbury AL, Patterson C (2008). CHIP deficiency decreases longevity, with accelerated aging phenotypes accompanied by altered protein quality control. Mol Cell Biol, 28, 4018-4025. |
|
|
Muller HD, Vielhaber S, Brunn A, Schroder JM (2001). Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. Acta Neuropathol, 102, 27-35. |
|
|
Nyamsuren O, Faggionato D, Loch W, Schulze E, Baumeister R (2007). A mutation in CHN- 1/CHIP suppresses muscle degeneration in Caenorhabditis elegans. Dev Biol, 312, 193-202. |
|
|
Pearse AGE (1972). HISTOCHEMISTRY -THEORETICAL and APPLIED. Harcourt Brace/Churchill Livingstone. |
|
|
Pestronk GJ, Kaiser KK, Brooke MH (1992). ATPase stain in muscle histochemistry. Muscle Nerve, 15, 258. |
|
|
Ronnebaum SM, Patterson C, Schisler JC (2014). Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias. Hum Genome Var, 1. |
|
|
Sakagami Y, Kudo T, Tanimukai H, Kanayama D, Omi T, Horiguchi K, Okochi M, Imaizumi K, Takeda M (2013). Involvement of endoplasmic reticulum stress in tauopathy. Biochem Biophys Res Commun, 430, 500-504. |
|
|
Sheehan DC, Hrapchak BB (1987). Theory and practice of histotechnology. Battelle Memorial institute. |
|
|
Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM (2014). Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet, 23, 1013-1024. |
|
|
Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, |
|
|
Wang G, Xia K, Zhang Z, Tang B (2013). Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One, 8, e81884. |
|
|
Sieb JP, Tolksdorf K, Dengler R, Jerusalem F (1996). An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family. Neuromuscul Disord, 6, 115-119. |
|
|
Synofzik M, Schule R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krageloh-Mann I, Gonzalez M, Young P, Zuchner S, Schols L, Bauer P (2014). Phenotype and frequency of STUB1 mutations: nextgeneration screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis, 9, 57. |
|
|
Willis MS, Min JN, Wang S, McDonough H, Lockyer P, Wadosky KM, Patterson C (2013). Carboxyl terminus of Hsp70-interacting protein (CHIP) is required to modulate cardiac hypertrophy and attenuate autophagy during exercise. Cell Biochem Funct, 31, 724-735. |
|
|
Zhu X, Zhang J, Sun H, Jiang C, Dong Y, Shan Q, Su S, Xie Y, Xu N, Lou X, Liu S (2014). Ubiquitination of inositol-requiring enzyme 1 (IRE1) by the E3 ligase CHIP mediates the IRE1/TRAF2/JNK pathway. J Biol Chem, 289, 30567-30577. |
|
Copyright © 2024 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0
